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Metadata
ID DOID:0050629
Name Aicardi-Goutieres syndrome
Definition A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
http://omim.org/entry/225750, http://www.ncbi.nlm.nih.gov/books/NBK1475/
Xrefs

GARD:575

ICD10CM:G31.8

OMIM:225750

OMIM:610181

OMIM:610329

OMIM:610333

OMIM:612952

OMIM:615010

OMIM:615846

ORDO:51

Subsets

DO_rare_slim

Synonyms

Cree encephalitis [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal genetic disease

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